Joubert syndrome: Neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

Journal of Medical Genetics

Volumn 54, Issue 8, 2017, Pages 521-529

  Poretti, Andrea ^a,b   Snow, Joseph ^c   Summers, Angela C ^c   Tekes, Aylin ^a   Huisman, Thierry A G M ^a   Aygun, Nafi ^a   Carson, Kathryn A ^a,d   Doherty, Dan ^e,f   Parisi, Melissa A ^g   Toro, Camilo ^h   Yildirimli, Deniz ⁱ   Vemulapalli, Meghana ⁱ   Mullikin, Jim C ⁱ   Cullinane, Andrew R ^i,j   Vilboux, Thierry ^i,k   Gahl, William A ^h,i   Gunay Aygun, Meral ^a,i  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^g EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

ⁱ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^j HOWARD UNIVERSITY COLLEGE OF MEDICINE   (United States)

^k Inova Translational Medicine Institute   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ARTICLE; BRAIN FOURTH VENTRICLE; BRAIN STEM; BRAIN VENTRICLE DILATATION; CEREBELLUM; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL TRIAL; COGNITION; COGNITION ASSESSMENT; CORRELATION ANALYSIS; DANDY WALKER SYNDROME; DNA SEQUENCE; FEMALE; HEREDITY; HIPPOCAMPUS; HUMAN; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MALE; MENINGOCELE; MESENCEPHALON; MOLAR TOOTH; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSTERIOR FOSSA; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; ABNORMALITIES; COHORT ANALYSIS; DIAGNOSTIC IMAGING; EYE MALFORMATION; GENETICS; KIDNEY POLYCYSTIC DISEASE; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; PROGNOSIS; PSYCHOLOGY; RETINA;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHILD; CHILD, PRESCHOOL; COGNITION; COHORT STUDIES; EYE ABNORMALITIES; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; NEUROIMAGING; PROGNOSIS; RETINA; WHOLE EXOME SEQUENCING;

EID: 85011103365     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104425     Document Type: Article

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